How is Factor VII Deficiency inherited in dogs?

Factor VII Deficiency follows a Autosomal recessive inheritance pattern. It has been observed in 41 of 266 breeds screened in the Sniff Atlas.

What is the human equivalent of Factor VII Deficiency?

OMIA links Factor VII Deficiency to its human counterpart in OMIM (OMIM 227500), the bridge to the deeper human-medicine literature for the same underlying biology.

How well studied is Factor VII Deficiency in dogs?

OMIA curates 40 peer-reviewed references for Factor VII Deficiency, including the landmark study "Genetic panel screening of nearly 100 mutations reveals new insights into the breed distribution of risk variants for canine hereditary disorders.". The full, linked citation list is on this page.

Canine Mendelian disease record

Factor VII Deficiency

Factor VII Deficiency. Autosomal recessive. Observed in 41 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,610 dogs (Donner 2023). Per-dog phenotype outcome depends on penetrance, modifiers, and environment; the carrier frequencies below describe variant prevalence, not disease incidence.

OMIA identifier: OMIA:000361-9615
Inheritance: Autosomal recessive
Source dataset: Sniff Atlas v1.0.1 / DOI

The human connection

A model of human congenital factor VII deficiency

This is the canine counterpart of congenital factor VII deficiency in people. That makes affected dogs a naturally-occurring model of the human disease, and it is part of why studying dogs moves medicine forward for everyone. It does not mean your dog has the human disease. It means the two share an underlying biology.

In people, the disease is described as: Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor.

In humans it is also called: congenital proconvertin deficiency, factor 7 deficiency, hypoproconvertinemia.

MONDO:0009211 OMIM 227500

Mapped from OMIA via the human disease's OMIM entry to the Mondo Disease Ontology (Monarch Initiative, CC-BY 4.0). Sniff renders this as a model-of link; the canine disease remains the subject of this page.

About this disease

From OMIA's curated record

Documented in OMIA (Online Mendelian Inheritance in Animals). This describes the disease as recorded in the published literature, not a prediction for any individual dog. As of 2026-06-03.

Summary

Bleeding disorder due to deficiency of factor VII, a vitamin K–dependent glycoprotein. In humans also called Alexander's disease; proconvertin deficiency; prothrombin conversion accelerator deficiency; hypoproconvertinaemia.

Clinical features

Ramirez et al. (2019) report that the disease results in mild to moderate bleeding propensity, but in most cases it is identified by chance when regular coagulation screenings result in extended prothrombin times (PT). Kaae et al. (2008) report that clinical presentation includes subcutaneous hematoma formation, blood loss anemia, and a history of abnormal bleeding. IT thanks DVM student Rami Mazraani, who provided the basis of this contribution in May 2023.

Molecular genetics

By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Callan et al. (2005, 2006) were the first to report a molecular basis for this disorder in dogs, as follows: "a G to A missense mutation in exon 5 in the affected Beagles, resulting in substitution of glycine 96 (GGA) to glutamic acid (GAA) in the second epidermal growth factor-like domain." The same variant (omia.variant:40) was later later reported in several additional breeds (e.g., Kaae et al., 2007; Donner et al., 2016; Thorsrud and Huson, 2021). For some of these breeds affected dogs were reported to be homozygous for the variant. Scottish deerhounds have been reported with Factor VII deficiency (Keeshen et al. 2017), but Court et al. (2023) report that in their study of Scottish deerhounds with delayed postoperative hemorrhage (DEPOH) the F7 c.407 G>A variant was not associated with DEPOH". A missense SERPINF2 variant was associated with DEPOH in their study (see OMIA:002631-9615 : Delayed postoperative hemorrhage in Canis lupus familiaris).

Prevalence

Clark et al. (2022) genotyped "67 anticoagulant-negative autopsy cases with unexplained etiology for gross lesions of hemorrhage" for the c.407G>A variant (OMIA variant id 40), and reported that "All 67 cases tested homozygous for the wild-type allele, indicating that the common FVIID variant was not responsible for the observed unexplained bleeding."

Genetic testing

Ramirez et al. (2019) "identified 2 polymorphisms near the disease-causing F7 gene mutation, one of which interfered with testing in several Beagles by causing allele dropout of the normal, wild-type allele. In the absence of an external proficiency program among veterinary genetic testing laboratories, implementation of an internal proficiency program, which requires 2 independent methods for genotyping dogs at any given locus, was further enhanced by ensuring minimally non-overlapping primer pairs between the 2 assays. After redesign of our clinical tests, all dogs were re-examined, and the correct genotypes were identified. These changes ensure higher accuracy in future testing of the F7 mutation."

Human analog

OMIA links this condition to its human counterpart in OMIM (Mendelian Inheritance in Man), the place to read across to the deeper human literature for the same biology.

Disease · OMIM 227500 Gene · OMIM 613878

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:000361-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).

Signs & cross-references

How it presents

Catalogued in the Mondo disease ontology (the cross-species disease identity used by the Monarch Initiative) as congenital factor VII deficiency (MONDO:0009211).

Phenotype terms: Human Phenotype Ontology + Mammalian Phenotype Ontology; disease terms: Mondo (Monarch Initiative). Cross-references curated by OMIA (doi:10.25910/2AMR-PV70, CC-BY 4.0).

The evidence

Published references

The peer-reviewed papers behind this disease, curated by OMIA. Starred entries are OMIA-designated landmark papers. Showing 6 of 40.

★
Genetic panel screening of nearly 100 mutations reveals new insights into the breed distribution of risk variants for canine hereditary disorders. · PLoS One · 2016 · PMID 27525650
Why is this an OMIA Landmark paper? It is "the first large scale report of DNA panel screening across purebred dogs to date", involving the genotyping of 6,788 dogs from 233 breeds for 93 disease-implicated variants across 80 single-locus disorders, providing a very informative "snapshot" of the distribution and frequency of these variants. Importantly, the results indicated "15 risk variants in a total of 34 breeds in which their presence was previously undocumented", which will be very helpful in the provision of genetic counselling in those breeds. The detection of some of these latter variants led to "plausible molecular explanations" for disorders in some breeds.
Canine haemophilic arthropathy: Magnetic resonance imaging and histologic assessment of joints in two adult beagles with confirmed factor deficiencies. · Vet Comp Orthop Traumatol · 2025 · PMID 40719108
Identification by whole genome sequencing of genes associated with delayed postoperative hemorrhage in Scottish deerhounds. · J Vet Intern Med · 2023 · PMID 36780177
Investigation of a common canine factor VII deficiency variant in dogs with unexplained bleeding on autopsy. · J Vet Diagn Invest · 2022 · PMID 35949113
Description of breed ancestry and genetic health traits in arctic sled dog breeds. · Canine Med Genet · 2021 · PMID 34544496
Canine factor VII deficiency: lessons learned in applying methods-based laboratory proficiency testing. · J Vet Diagn Invest · 2019 · PMID 30661469

References curated by OMIA (Nicholas, Tammen & the Sydney Informatics Hub), doi:10.25910/2AMR-PV70 (CC-BY 4.0). Full list at the OMIA entry.

Predict a litter

Set each parent's status for Factor VII Deficiency and see the odds for their puppies. Single recessive variant, exact Mendelian math.

Parent A

Parent B

NNClear

NmCarrier

mmAffected

Clear25%

Carrier50%

Affected25%

These are the genetic odds for one known variant, not a promise: a real litter varies around them, and penetrance or other genes can change whether the condition ever appears. Use it to avoid pairing two carriers and to keep a line healthy, not to engineer a dog. Inheritance mode per OMIA.

Your breed

See what Factor VII Deficiency looks like in your dog's breed.

Carrier frequency by breed

Top 25 well-sampled breeds (n ≥ 50)

Maximum carrier frequency per breed across variants in the Donner 2023 cohort, with Wilson 95% confidence intervals. The list below is split into well-sampled breeds (n ≥ 50 tested) and small-sample breeds (n < 50, where the Wilson CI typically spans more than 20 percentage points and frequencies should not be compared directly to the well-sampled entries). Frequencies are population-level, not per-litter or per-line.

0%10%20%

Beagle10.5% · n 5,263

10.5%n 5,263

Schipperke9.0% · n 72

9.0%n 72

Basset Hound6.0% · n 985

6.0%n 985

Alaskan Klee Kai4.0% · n 100

4.0%n 100

German Shorthaired Pointer2.8% · n 1,252

2.8%n 1,252

American Foxhound1.7% · n 573

1.7%n 573

Italian Greyhound1.3% · n 263

1.3%n 263

Catahoula Leopard Dog1.3% · n 153

1.3%n 153

Schnauzer Miniature1.1% · n 4,635

1.1%n 4,635

Papillon1.0% · n 196

1.0%n 196

Vizsla0.94% · n 318

0.94%n 318

Bulldog Standard0.58% · n 4,815

0.58%n 4,815

Blue Tick Coonhound0.48% · n 104

0.48%n 104

Chow Chow0.39% · n 643

0.39%n 643

American Eskimo Dog0.33% · n 302

0.33%n 302

n = 19,674 dogs · Donner et al. 2023 carrier-screening cohort · Sniff Atlas

Each bar is one well-sampled breed; the whisker is its Wilson 95% CI, and fainter bars have wider intervals. Frequencies are population-level, not per-litter. Carrier status for Factor VII Deficiency is measured; phenotype outcome depends on penetrance and modifiers.

▸ Full table with Wilson 95% confidence intervals

Breed	Carrier frequency	Wilson 95% CI	n tested
Beagle	10.5%	[9.7%, 11.4%]	5,263
Schipperke	9.0%	[4.3%, 17.9%]	72
Basset Hound	6.0%	[4.7%, 7.6%]	985
Alaskan Klee Kai	4.0%	[1.6%, 9.8%]	100
German Shorthaired Pointer	2.8%	[2.0%, 3.8%]	1,252
American Foxhound	1.7%	[0.9%, 3.1%]	573
Italian Greyhound	1.3%	[0.5%, 3.6%]	263
Catahoula Leopard Dog	1.3%	[0.4%, 4.6%]	153
Schnauzer Miniature	1.1%	[0.9%, 1.5%]	4,635
Papillon	1.0%	[0.3%, 3.6%]	196
Vizsla	0.94%	[0.3%, 2.7%]	318
Bulldog Standard	0.58%	[0.4%, 0.8%]	4,815
Blue Tick Coonhound	0.48%	[0.1%, 4.4%]	104
Chow Chow	0.39%	[0.1%, 1.2%]	643
American Eskimo Dog	0.33%	[0.1%, 1.9%]	302
Treeing Walker Coonhound	0.30%	[0.1%, 1.7%]	336
English Springer Spaniel	0.13%	[0.0%, 0.8%]	751
Cocker Spaniel	0.11%	[0.0%, 0.4%]	1,880
Great Pyrenees	0.10%	[0.0%, 0.4%]	1,985
Alaskan Malamute	<0.1%	[0.0%, 0.9%]	504
Dachshund Miniature Shorthaired	<0.1%	[0.0%, 0.8%]	585
Australian Shepherd	<0.1%	[0.0%, 0.3%]	2,296
Dalmatian	<0.1%	[0.0%, 0.6%]	820
Pomeranian	<0.1%	[0.0%, 0.2%]	5,293
American Staffordshire Terrier	<0.1%	[0.0%, 0.1%]	42,792

Top 25 of 32 well-sampled breeds with at least one observed carrier shown.

▸ Also observed in 9 small-sample breeds (n < 50)

Frequencies in this section are statistical estimates with wide Wilson 95% confidence intervals (typically >20 percentage points). Treat these as "carriers observed but the true population frequency is not yet measurable" rather than as comparable to the well-sampled entries above.

Breed	Estimate	Wilson 95% CI	n tested
Sealyham Terrier	25.0%	[4.6%, 69.9%]	4
Welsh Springer Spaniel	25.0%	[8.9%, 53.2%]	12
Continental Toy Spaniel	18.8%	[4.5%, 53.3%]	8
Japanese Spitz	16.7%	[5.8%, 39.2%]	18
Scottish Deerhound	13.9%	[4.4%, 36.1%]	18
Finnish Hound	12.5%	[5.2%, 27.0%]	36
Lacy Dog	10.9%	[4.1%, 26.2%]	32
Redbone Coonhound	10.3%	[3.6%, 26.4%]	29
Plott	2.0%	[0.2%, 16.6%]	25

225 additional breeds in the Donner 2023 cohort were tested but showed no carriers.

Penetrance

From genotype to phenotype

Carrier status is not the same as disease status. Penetrance is the fraction of at-risk dogs that develop the phenotype. The Donner 2023 S4 table tracks this for 1 variant(s) underlying this disease in the cohort.

At-risk dogs evaluated: 33
Phenotype confirmed: 6
Penetrance range: 18% to 18%

Predicted disease relevance at the per-dog level is UNPROVEN. The carrier frequency is measured; phenotype outcome is governed by penetrance, environment, and modifier loci. Consult a veterinarian for clinical interpretation.

How to cite this record

If you use this record in published work, cite the Sniff Atlas (the published dataset that carries the breed-level carrier frequencies) and the upstream sources:

Sniff Atlas v1.0.1 for the per-breed carrier frequencies:
Gehring, M. (2026). Sniff Atlas v1.0.1. Zenodo. https://doi.org/10.5281/zenodo.20566358. CC-BY 4.0.
OMIA for the disease definition, inheritance, and gene assignment:
Nicholas, F. W., & Tammen, I. (2024). OMIA. Sydney Informatics Hub, The University of Sydney. https://doi.org/10.25910/2AMR-PV70. Entry: OMIA:000361-9615.
Donner et al. 2023 for the breed × variant carrier-frequency cohort:
Donner, J., Freyer, J., Davison, S., Anderson, H., Blades, M., Honkanen, L., et al. (2023). Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. PLOS Genetics, 19(2), e1010651. https://doi.org/10.1371/journal.pgen.1010651.

Full citation formats (BibTeX, RIS, CITATION.cff) at sniff.world/cite.

Sniff Atlas v1.0.1, the source dataset for these frequencies.
Browse breeds, per-breed Mendelian profiles, including this disease in context.
OMIA entry OMIA:000361-9615, authoritative clinical reference.
About OMIA, the catalogue this record comes from, and how Sniff uses it.

Last updated June 20, 2026

Sources: Sniff Atlas v1.0.1 · OMIA OMIA:000361-9615 · Donner et al. 2023